rs1057516215

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs1057516215(C;C)

Make rs1057516215(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80108609

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057516215
dbSNP (classic)	rs1057516215
ClinGen	rs1057516215
ebi	rs1057516215
HLI	rs1057516215
Exac	rs1057516215
Gnomad	rs1057516215
Varsome	rs1057516215
LitVar	rs1057516215
Map	rs1057516215
PheGenI	rs1057516215
Biobank	rs1057516215
1000 genomes	rs1057516215
hgdp	rs1057516215
ensembl	rs1057516215
geneview	rs1057516215
scholar	rs1057516215
google	rs1057516215
pharmgkb	rs1057516215
gwascentral	rs1057516215
openSNP	rs1057516215
23andMe	rs1057516215
SNPshot	rs1057516215
SNPdbe	rs1057516215
MSV3d	rs1057516215
GWAS Ctlg	rs1057516215

Max Magnitude

0

ClinVar
Risk	rs1057516215(C;C)
Alt	rs1057516215(C;C)
Reference	Rs1057516215(T;T)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78082408T>C
CLNSRC
CLNACC	RCV000409997.1,